Canonical Allele Identifier: CA343984051

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712737A>G (hg19) ; chr1:g.196743607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743607A>G , CM000663.2:g.196743607A>G	GRCh38
NC_000001.10:g.196712737A>G , CM000663.1:g.196712737A>G	GRCh37
NC_000001.9:g.194979360A>G	NCBI36
NG_007259.1:g.96597A>G , LRG_47:g.96597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4317A>G
ENST00000695970.1:c.3115A>G	ENSP00000512297.1:p.Thr1039Ala
ENST00000695971.1:c.3268A>G	ENSP00000512298.1:p.Thr1090Ala
ENST00000695972.1:c.*366A>G	ENSP00000512299.1:n.*366A>G
ENST00000695973.1:c.*1653A>G	ENSP00000512300.1:n.*1653A>G
ENST00000695974.1:c.3112A>G	ENSP00000512301.1:p.Thr1038Ala
ENST00000695975.1:c.*1416A>G	ENSP00000512302.1:n.*1416A>G
ENST00000695976.1:c.3100A>G	ENSP00000512303.1:p.Thr1034Ala
ENST00000695981.1:c.3289A>G	ENSP00000512306.1:p.Thr1097Ala
ENST00000695984.1:c.1297A>G	ENSP00000512309.1:p.Thr433Ala
ENST00000695986.1:c.*2940A>G	ENSP00000512311.1:n.*2940A>G
ENST00000696026.1:c.*1571A>G	ENSP00000512335.1:n.*1571A>G
ENST00000696027.1:c.3283A>G	ENSP00000512336.1:p.Thr1095Ala
ENST00000696028.1:c.3217A>G	ENSP00000512337.1:p.Thr1073Ala
ENST00000696029.1:c.3283A>G	ENSP00000512338.1:p.Thr1095Ala
ENST00000696031.1:c.*2807A>G	ENSP00000512340.1:n.*2807A>G
ENST00000696032.1:c.3289A>G	ENSP00000512341.1:p.Thr1097Ala
ENST00000696033.1:c.1160-36190A>G	ENSP00000512342.1:n.1160-36190A>G
ENST00000367429.9:c.3289A>G MANE Select	ENSP00000356399.4:p.Thr1097Ala
ENST00000367429.8:c.3289A>G	ENSP00000356399.4:p.Thr1097Ala
ENST00000466229.5:n.6387A>G
NM_000186.3:c.3289A>G , LRG_47t1:c.3289A>G	NP_000177.2:p.Thr1097Ala
XR_001737134.2:n.3475A>G
NM_000186.4:c.3289A>G MANE Select	NP_000177.2:p.Thr1097Ala